A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18085279



Internal ID20652319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31886126..31886765hg38UCSC Ensembl
chr2:32111195..32111834hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344716
Supporting Variants
Samples
Known GenesMEMO1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18085279
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00042


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